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    TMEM54 transmembrane protein 54 [ Homo sapiens (human) ]

    Gene ID: 113452, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TMEM54provided by HGNC
    Official Full Name
    transmembrane protein 54provided by HGNC
    Primary source
    HGNC:HGNC:24143
    See related
    Ensembl:ENSG00000121900 AllianceGenome:HGNC:24143
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCLP; CAC1; CAC-1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 134.2), small intestine (RPKM 52.7) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM54 in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32894595..32901389, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32754390..32761183, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33360196..33366990, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33333351-33333852 Neighboring gene fibronectin type III domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33338281-33339137 Neighboring gene uncharacterized LOC105378631 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33361017-33361615 Neighboring gene hippocalcin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 612 Neighboring gene uncharacterized LOC105378632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:33390633-33391176 Neighboring gene Sharpr-MPRA regulatory region 2329 Neighboring gene ring finger protein 19B Neighboring gene NANOG hESC enhancer GRCh37_chr1:33413154-33413655 Neighboring gene metallothionein-1E-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer.
      Title: MicroRNA-148a-3p suppresses the glycolysis and Cell proliferation by targeting transmembrane protein 54 in liver cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 54
    Names
    beta-casein-like protein
    cervical adenocarcinoma cell line 1 cDNA
    protein CAC-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001329722.2 → NP_001316651.1  transmembrane protein 54 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC114493
      Conserved Domains (1) summary
      pfam12304
      Location:18 → 198
      BCLP; Beta-casein like protein

    2. NM_001329723.2 → NP_001316652.1  transmembrane protein 54 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 3' end of the coding sequence and lacks an in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC114493, AY359883, BC001418, BG703627, CN401565
      UniProtKB/Swiss-Prot
      Q969K7
      Conserved Domains (1) summary
      pfam12304
      Location:18 → 179
      BCLP; Beta-casein like protein

    3. NM_001329724.2 → NP_001316653.1  transmembrane protein 54 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC114493, BC001418, BG703627, BI761922, CN401565
      UniProtKB/Swiss-Prot
      Q969K7
      Related
      ENST00000474144.5

    4. NM_001329725.2 → NP_001316654.1  transmembrane protein 54 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses two alternate in-frame splice junctions and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC023260
      Consensus CDS
      CCDS85954.1
      UniProtKB/Swiss-Prot
      Q969K7
      Related
      ENSP00000328630.5, ENST00000329151.5
      Conserved Domains (1) summary
      pfam12304
      Location:18 → 146
      BCLP; Beta-casein like protein

    5. NM_033504.4 → NP_277039.1  transmembrane protein 54 isoform 2

      See identical proteins and their annotated locations for NP_277039.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      BC001418, CN401565
      Consensus CDS
      CCDS371.1
      UniProtKB/Swiss-Prot
      Q6UV18, Q8IVD0, Q969K7, Q9UM12
      Related
      ENSP00000362562.3, ENST00000373463.8
      Conserved Domains (1) summary
      pfam12304
      Location:18 → 199
      BCLP; Beta-casein like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      32894595..32901389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      32754390..32761183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969K7.1 GenPept UniProtKB/Swiss-Prot:Q969K7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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